ArticleArthritis & rheumatology (Hoboken, N.J.)2016
Brief Report: Whole-Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis.
Article in Arthritis & rheumatology (Hoboken, N.J.), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Unfolding the pathogenesis of scleroderma through genomics and epigenomics.Journal of autoimmunity · 2017Pooled it
- Machine learning for precision diagnostics of autoimmunity.Scientific reports · 2024Article
- Syncope in Migraine: A Genome-Wide Association Study Revealing Distinct Genetic Susceptibility Variants Across Subtypes.Journal of clinical neurology (Seoul, Korea) · 2024Article
- COL5A2 is a prognostic-related biomarker and correlated with immune infiltrates in gastric cancer based on transcriptomics and single-cell RNA sequencing.BMC medical genomics · 2023Article
- IL-6 trans-signaling in a humanized mouse model of scleroderma.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Identification and characterization of bone/cartilage-associated signatures in common fibrotic skin diseases.Frontiers in genetics · 2023Article
- Review
- Exome sequencing link mutation inFrontiers in oncology · 2022Article
- Systematic Analysis of the Literature in Search of Defining Systemic Sclerosis Subsets.The Journal of rheumatology · 2021Article
- Progressive Fibrosing Interstitial Lung Diseases: A Current Perspective.Biomedicines · 2021Review
- Updates on genetics in systemic sclerosis.Inflammation and regeneration · 2021Review
- Review
- Elucidating the cellular mechanism for E2-induced dermal fibrosis.Arthritis research & therapy · 2021Article
- Connection of BANK1, Tolerance, Regulatory B cells, and Apoptosis: Perspectives of a Reductionist Investigation.Frontiers in immunology · 2021Article
- Increased Collagen Type V α2 (COL5A2) in Colorectal Cancer is Associated with Poor Prognosis and Tumor Progression.OncoTargets and therapy · 2021Article
- Pulmonary involvement in systemic sclerosis: exploring cellular, genetic and epigenetic mechanisms.Rheumatology international · 2020Review
- Molecular "omic" signatures in systemic sclerosis.European journal of rheumatology · 2020Review
- A case of Myhre syndrome mimicking juvenile scleroderma.Pediatric rheumatology online journal · 2020Article
- Etiology, Risk Factors, and Biomarkers in Systemic Sclerosis with Interstitial Lung Disease.American journal of respiratory and critical care medicine · 2020Article
- The Association Between MUC5B Mutations and Clinical Outcome in Patients with Rheumatoid Arthritis-Associated Interstitial Lung Disease: A Retrospective Exploratory Study in China.Medical science monitor : international medical journal of experimental and clinical research · 2020Observational
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
objectiveScleroderma is a genetically complex autoimmune disease with substantial phenotypic heterogeneity. Previous genome-wide association studies have identified common genetic variants associated with disease risk, but these studies are not designed to capture rare or potential causal variants. Our goal was to identify rare as well as common genetic variants in patients with diffuse cutaneous systemic sclerosis (dcSSc) through whole-exome sequencing (WES) in order to identify potential causal variants.
methodsWe generated WES data for 32 dcSSc patients with or without interstitial lung disease (ILD) and for 17 healthy "in-house" controls. Variants were annotated and filtered by quality, minor allele frequency, and deleterious effects on gene function. We applied a gene burden test to identify novel dcSSc and dcSSc-associated ILD candidate genes that were enriched with deleterious variants in cases compared to in-house controls as well as controls from the 1000 Genomes Project (n = 130).
resultsWe identified 70 genes that were enriched with deleterious variants in dcSSc patients. Two of them (BANK1 and TERT) were in pathways previously implicated in SSc or ILD pathogenesis or known susceptibility loci. Newly identified genes (COL4A3, COL4A4, COL5A2, COL13A1, and COL22A1) were significantly enriched in the extracellular matrix-related pathway, which is relevant to the fibrotic features of dcSSc, and in the DNA repair pathway (XRCC4).
conclusionThis study demonstrates the value of WES for the identification of novel gene variants and pathways that may contribute to scleroderma risk and/or severity. The candidate genes we discovered are potential targets for in-depth functional studies.
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